Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 25316 | 76171;76172;76173 | chr2:178570186;178570185;178570184 | chr2:179434913;179434912;179434911 |
| N2AB | 23675 | 71248;71249;71250 | chr2:178570186;178570185;178570184 | chr2:179434913;179434912;179434911 |
| N2A | 22748 | 68467;68468;68469 | chr2:178570186;178570185;178570184 | chr2:179434913;179434912;179434911 |
| N2B | 16251 | 48976;48977;48978 | chr2:178570186;178570185;178570184 | chr2:179434913;179434912;179434911 |
| Novex-1 | 16376 | 49351;49352;49353 | chr2:178570186;178570185;178570184 | chr2:179434913;179434912;179434911 |
| Novex-2 | 16443 | 49552;49553;49554 | chr2:178570186;178570185;178570184 | chr2:179434913;179434912;179434911 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
Reported SAVs
| SNV | RS | DUET |
PolyPhen-2 |
Condel |
Rhapsody |
REVEL |
MVP |
Source |
MAF |
Disease |
Zygosity |
Site annotation |
mCSM PPI |
Predicted PPI site |
Comments |
AFR |
AMR |
AMS |
ASJ |
EAS |
EUR |
FIN |
MDE |
NFE |
SAS |
OTH |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/L | rs908851465  |
None | 0.437 | N | 0.307 | 0.137 | 0.493494165309 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| V/L | rs908851465 |
None | 0.437 | N | 0.307 | 0.137 | 0.493494165309 | gnomAD-4.0.0 | 1.59188E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85925E-06 | 0 | 0 |
| V/M | rs908851465 |
None | 0.968 | N | 0.436 | 0.363 | 0.586144602217 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| V/M | rs908851465 |
None | 0.968 | N | 0.436 | 0.363 | 0.586144602217 | gnomAD-4.0.0 | 3.84475E-06 | None | None | None | None | N | None | 5.07683E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
Saturation Mutagenesis
SAV |
AlphaMissense (IC) |
AlphaMissense Class (IC) |
AlphaMissense (N2AB) |
AlphaMissense Class (N2AB) |
mCSM |
mCSM class |
PolyPhen-2 |
PolyPhen-2 Class |
Rhapsody |
Rhapsody Class |
Condel |
Condel Score |
Site annotation |
mCSM PPI |
Predicted PPI site |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.2406 | likely_benign | 0.2823 | benign | -1.176 | Destabilizing | 0.78 | D | 0.475 | neutral | N | 0.502264129 | None | None | N |
| V/C | 0.6926 | likely_pathogenic | 0.7344 | pathogenic | -1.183 | Destabilizing | 0.999 | D | 0.521 | neutral | None | None | None | None | N |
| V/D | 0.7737 | likely_pathogenic | 0.8037 | pathogenic | -2.198 | Highly Destabilizing | 0.996 | D | 0.685 | prob.neutral | None | None | None | None | N |
| V/E | 0.5645 | likely_pathogenic | 0.6045 | pathogenic | -2.244 | Highly Destabilizing | 0.995 | D | 0.608 | neutral | N | 0.521090101 | None | None | N |
| V/F | 0.2918 | likely_benign | 0.3185 | benign | -1.404 | Destabilizing | 0.976 | D | 0.505 | neutral | None | None | None | None | N |
| V/G | 0.3992 | ambiguous | 0.4746 | ambiguous | -1.407 | Destabilizing | 0.995 | D | 0.653 | neutral | N | 0.511090149 | None | None | N |
| V/H | 0.759 | likely_pathogenic | 0.7937 | pathogenic | -1.084 | Destabilizing | 0.999 | D | 0.688 | prob.neutral | None | None | None | None | N |
| V/I | 0.0643 | likely_benign | 0.0709 | benign | -0.648 | Destabilizing | 0.015 | N | 0.16 | neutral | None | None | None | None | N |
| V/K | 0.4842 | ambiguous | 0.52 | ambiguous | -1.002 | Destabilizing | 0.988 | D | 0.615 | neutral | None | None | None | None | N |
| V/L | 0.2391 | likely_benign | 0.2802 | benign | -0.648 | Destabilizing | 0.437 | N | 0.307 | neutral | N | 0.471270334 | None | None | N |
| V/M | 0.1646 | likely_benign | 0.1946 | benign | -0.435 | Destabilizing | 0.968 | D | 0.436 | neutral | N | 0.503999805 | None | None | N |
| V/N | 0.5084 | ambiguous | 0.5642 | pathogenic | -0.982 | Destabilizing | 0.996 | D | 0.689 | prob.neutral | None | None | None | None | N |
| V/P | 0.6542 | likely_pathogenic | 0.6936 | pathogenic | -0.793 | Destabilizing | 0.996 | D | 0.619 | neutral | None | None | None | None | N |
| V/Q | 0.4853 | ambiguous | 0.5383 | ambiguous | -1.291 | Destabilizing | 0.996 | D | 0.63 | neutral | None | None | None | None | N |
| V/R | 0.4418 | ambiguous | 0.4737 | ambiguous | -0.479 | Destabilizing | 0.996 | D | 0.687 | prob.neutral | None | None | None | None | N |
| V/S | 0.3503 | ambiguous | 0.4194 | ambiguous | -1.292 | Destabilizing | 0.988 | D | 0.529 | neutral | None | None | None | None | N |
| V/T | 0.2477 | likely_benign | 0.2935 | benign | -1.247 | Destabilizing | 0.919 | D | 0.419 | neutral | None | None | None | None | N |
| V/W | 0.9011 | likely_pathogenic | 0.9168 | pathogenic | -1.615 | Destabilizing | 0.999 | D | 0.693 | prob.neutral | None | None | None | None | N |
| V/Y | 0.6914 | likely_pathogenic | 0.7276 | pathogenic | -1.235 | Destabilizing | 0.996 | D | 0.523 | neutral | None | None | None | None | N |
Titin has multiple isoforms, the longest being the theoretical IC (inferred complete) isoform which contains all 363 in-frame titin exons. Here all isoform positions have been mapped onto the IC sequence, with an exception being the C-terminal of the much shorter novex-3 isoform. This contains the out of frame exon 48 which cannot be mapped to the other isoforms.